The features of ATR-X syndrome

There are 3 principal features in the ATR-X syndrome:

Other features such as abnormal genital development may also be present (see other features). The anaemia can be detected by a specific blood test and this forms the basis of a laboratory test for this condition.

Table 1 below shows the frequency with which these features are encountered in ATR-X syndrome. The table, however, does not indicate the subtlety with which these features may be present. It should be noted that even the 'principal' features may be absent.